Task-Specific Focal Dystonia

The most common form of dystonia, characterized by MUSCLE SPASMS that occur during the performance of specific learned motor tasks such as writing or playing a musical instrument. They interfere with the performance of that task while other actions are unaffected. Frequency is 1 in 3400 in the general population and 1 in 200 among musicians; it appears to exhibit autosomal dominant inheritance. OMIM: 611284

Also Known As:

Networked: 173 relevant articles (9 outcomes, 21 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Dystonic Disorders (Writer's Cramp)
2.	Task-Specific Focal Dystonia
3.	Blepharospasm
4.	Dystonia (Limb Dystonia)
5.	Torticollis (Wryneck)

Experts

1.	Hallett, Mark: 24 articles (05/2022 - 05/2004)
2.	Altenmüller, Eckart: 16 articles (01/2022 - 01/2005)
3.	Lungu, Codrin: 5 articles (11/2019 - 03/2011)
4.	Kimberley, Teresa Jacobson: 5 articles (04/2015 - 01/2009)
5.	Byl, Nancy N: 5 articles (03/2012 - 01/2002)
6.	Byblow, Winston D: 5 articles (09/2005 - 05/2004)
7.	Stinear, Cathy M: 5 articles (09/2005 - 05/2004)
8.	Berardelli, Alfredo: 4 articles (01/2020 - 02/2013)
9.	Alter, Katharine: 4 articles (11/2019 - 03/2011)
10.	Furuya, Shinichi: 4 articles (01/2018 - 05/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Task-Specific Focal Dystonia:

1.	Botulinum Toxins (Botulinum Toxin)IBA 06/01/2007 - "Botulinum neurotoxin is effective to treat such hypercontraction of muscles, however, in case of musician's dystonia, too much amount of its effects are not beneficial for the players because of the risk to weaken or paralyze the finger/hand becomes higher. " 01/01/1994 - "Botulinum toxin injection is safe and effective for the long-term management of focal hand dystonia." 07/01/1995 - "This study confirms the efficacy of botulinum toxin in many patients with focal hand dystonia." 07/01/1995 - "Double-blind trial of botulinum toxin for treatment of focal hand dystonia." 01/01/2021 - "The trouble with plasticity: Botulinum toxin, motor maps and focal hand dystonia."
2.	FHDIBA 01/01/2021 - "The efficacy of magnetic resonance-guided focused ultrasound (MRgFUS) thalamotomy for the treatment of focal hand dystonia (FHD) is not well known. " 01/01/2022 - "The current study compared the kinematics and keypress data among individuals in three groups: healthy and well-trained pianists (i.e., subjects with skill learning), non-musicians (i.e., subjects without skill learning), and patients with focal-hand dystonia (FHD) (i.e., subjects with maladaptation by skill learning). " 06/01/2010 - "Functional imaging studies of people with focal hand dystonia (FHD) have indicated abnormal activity in sensorimotor brain regions. " 10/01/2009 - "The left dorsal premotor cortex (PMd) plays an important role in movement selection and is abnormally activated in imaging studies in patients with right-sided focal hand dystonia (FHD). " 01/01/2007 - "This article provides detailed descriptions of two behavioral animal models (a primate [owl monkey] model and a rodent [Sprague-Dawley rat] model) developed to study the effect of excessive repetition as a potential etiology of focal hand dystonia (FHd). "
3.	Type A Botulinum Toxins (Botox)FDA Link 11/01/2022 - "We compared 2 targeting techniques for onabotulinumtoxin-A (onabotA) injection for the treatment of focal hand dystonia and upper limb spasticity: electrophysiologic guidance using electrical stimulation (E-stim) and ultrasound (US). " 07/01/2009 - "Botulinum toxin type A in the treatment of focal hand dystonia after surgical treatment for thumb duplication." 08/01/2007 - "Bach, botox, and butterflies: toward an awareness of musician's dystonia." 03/01/2018 - "A 59-year male patient, who had developed focal hand dystonia after suffering from ischemic stroke 5 years ago, received training following an injection of Botulinum Toxin A (BoNTA). " 01/01/2023 - "Long-Term Muscular Atrophy and Weakness Following Cessation of Botulinum Toxin Type A Injections in the Flexor Digitorum Muscle of Musicians with Focal Hand Dystonia."
4.	Dopamine (Intropin)FDA LinkGeneric 01/01/2016 - "Previous receptor binding studies suggest dopamine function is altered in the basal ganglia circuitry in task-specific dystonia, a condition characterized by contraction of agonist and antagonist muscles while performing specific tasks. " 06/01/2019 - "The effect of dopamine for focal hand dystonia after stroke."
5.	salicylhydroxamic acid (SHAM)IBA 11/01/2016 - "Thirteen patients with focal hand dystonia, 13 patients with cervical dystonia and 13 healthy subjects underwent two sessions: (i) cTBS over the cerebellar hemisphere (real cTBS) and (ii) cTBS over the neck muscles (sham cTBS). " 01/01/2015 - "Eight people with dystonia (5 writer's dystonia, 3 musician's dystonia) and eight age-matched controls completed the study and underwent cerebellar anodal, cathodal and sham tDCS in separate sessions. "
6.	brassIBA 01/01/2013 - " paper reviews the various phenomenology of musician's dystonia across keyboard, string, brass, flute and drum players. " 09/01/2001 - "We report detailed clinical observations of 26 professional brass and woodwind players afflicted with focal task-specific dystonia of the embouchure (the pattern of lip, jaw, and tongue muscles used to control the flow of air into a mouthpiece). " 03/01/2019 - "Embouchure dystonia (EmD) is a variant of focal task-specific dystonia in musicians characterized by the loss of control in facial and oral muscles while controlling airflow into the mouthpiece of a wind or brass instrument. " 11/01/2016 - "Embouchure dystonia is a highly disabling focal task-specific dystonia affecting professional brass players. " 01/01/2016 - "Embouchure dystonia is an unusual focal task-specific dystonia affecting the muscles that control the flow of air into the mouthpiece of a brass or woodwind instrument. "
7.	tau Proteins (tau Protein)IBA 03/30/2021 - "Although the most consistent ALS and ALS-FTSD pathology is a disturbance in transactive response DNA binding protein 43 kDa (TDP-43) metabolism, alterations in microtubule-associated tau protein metabolism have also been observed in ALS-FTSD. " 01/01/2020 - "Although the most consistent pathology of ALS and ALS-FTSD is a disturbance in TAR DNA binding protein 43 kDa (TDP-43) metabolism, alterations in microtubule-associated tau protein (tau) metabolism can also be observed in ALS-FTSD, most prominently as pathological phosphorylation at Thr175 (pThr175tau). "
8.	gamma-Aminobutyric Acid (GABA)IBA 03/01/2012 - "In a group of 17 patients with focal hand dystonia and a group of 19 HV, we evaluated how PAS and the learning of a simple motor task influence the circuits supporting long-interval intracortical inhibition (LICI, reflecting activity of GABA(B) interneurons) and long-latency afferent inhibition (LAI, reflecting activity of somatosensory inputs to the motor cortex). " 01/01/2018 - "To investigate GABA-ergic receptor density and associated brain functional and grey matter changes in focal hand dystonia (FHD). "
9.	DNA-Binding Proteins (DNA Binding Protein)IBA 03/30/2021 - "Although the most consistent ALS and ALS-FTSD pathology is a disturbance in transactive response DNA binding protein 43 kDa (TDP-43) metabolism, alterations in microtubule-associated tau protein metabolism have also been observed in ALS-FTSD. " 01/01/2020 - "Although the most consistent pathology of ALS and ALS-FTSD is a disturbance in TAR DNA binding protein 43 kDa (TDP-43) metabolism, alterations in microtubule-associated tau protein (tau) metabolism can also be observed in ALS-FTSD, most prominently as pathological phosphorylation at Thr175 (pThr175tau). "
10.	BaclofenFDA LinkGeneric 04/01/2023 - "Baclofen-Responsive Task-Specific Dystonia: Video Case Report." 04/01/2005 - "Treatment of cervical dystonia and focal hand dystonia by high cervical continuously infused intrathecal baclofen: a report of 2 cases."

Therapies and Procedures

1.	Transcranial Magnetic Stimulation 01/01/2022 - "Repetitive transcranial magnetic stimulation (rTMS) of the premotor cortex improved handwriting with prolongation of the silent period in focal hand dystonia patients. " 04/01/2016 - "The aim of the present study was to determine whether interhemispheric inhibition (IHI) measured with transcranial magnetic stimulation is impaired in healthy family members rendering it a suitable endophenotypic marker for musician's dystonia. " 11/01/2012 - "To investigate whether hand muscle repetitive use reduces surround inhibition (SI) as observed in patients with focal hand dystonia, we performed a transcranial magnetic stimulation (TMS) study in 15 healthy right-handed volunteers. " 11/24/2010 - "Corticospinal excitability during action observation in task-specific dystonia: a transcranial magnetic stimulation study." 04/20/2021 - "Effects of Low-frequency Repetitive Transcranial Magnetic Stimulation on Focal Hand Dystonia: A Case Report."
2.	Transcranial Direct Current Stimulation 01/01/2017 - "Cathodal Transcranial Direct Current Stimulation Improves Focal Hand Dystonia in Musicians: A Two-Case Study." 01/01/2015 - "Anodal transcranial direct current stimulation to the cerebellum improves handwriting and cyclic drawing kinematics in focal hand dystonia." 05/01/2014 - "Here we tested whether skilled finger movements can be restored in musicians with focal hand dystonia through behavioral training assisted by transcranial direct current stimulation to the motor cortex of both hemispheres. " 08/01/2011 - "Transcranial direct current stimulation for the treatment of focal hand dystonia." 01/01/2011 - "Single-session tDCS-supported retraining does not improve fine motor control in musician's dystonia."
3.	Injections 01/01/2023 - "Current management of task-specific dystonia includes mainly prescribing drugs, exercise therapy or botulinum injections to the affected muscles. " 02/01/2016 - "The major forms of focal and task-specific dystonia are reviewed, along with the evidence for BoNT therapy, the expected benefit and side effects, and practical points guiding the injections. " 01/25/2005 - "The authors present the results of 84 musicians with focal task-specific dystonia treated with EMG-guided botulinum toxin injections. " 01/25/2005 - "Botulinum toxin injections in the treatment of musician's dystonia." 01/01/1994 - "We treated focal hand dystonia in 53 patients with botulinum toxin injections for up to 6 years. "
4.	Therapeutics 01/01/2023 - "Is Behavioural Therapy a New Treatment Option for Task-Specific Dystonia in Athletes? " 11/01/2022 - "Participants with focal hand dystonia or upper limb spasticity, on stable onabotA therapy for at least 2 previous injection cycles, were randomly assigned to either E-stim or US with crossover at 3 months. " 01/01/2021 - "Although it appears that a number of task-specific dystonia patients may improve with rehabilitation therapy, no definitive conclusions can be drawn. " 01/01/2021 - "The purpose of this systematic review was to investigate the available evidence about the role of rehabilitation therapy as a treatment for task-specific dystonia. " 01/01/2021 - "Evidence of rehabilitation therapy in task-specific focal dystonia: a systematic review."
5.	Deep Brain Stimulation 01/01/2018 - "However, accumulating evidence suggests that long-term and complete remission of various types of focal hand dystonia can be achieved with stereotactic ablation or deep brain stimulation of the thalamic ventral-oralis complex (Vo) nucleus, which includes both the ventralis oralis posterior and anterior nuclei of the thalamus. " 10/30/2023 - "The patient was a 67-year-old pianist with musician's dystonia who underwent deep brain stimulation with the ventralis oralis anterior and posterior nuclei of the thalamus as targets. " 10/30/2023 - "We present the effects of ventro-oral thalamic deep brain stimulation in a patient with musician's dystonia. " 10/30/2023 - "Effects of ventro-oral thalamic deep brain stimulation in a patient with musician's dystonia: illustrative case." 09/01/2021 - "Different surgical modalities that have been used to treat focal hand dystonia include lesional surgery, deep brain stimulation, and magnetic resonance-guided focused ultrasound thalamotomy. "